SUMMARY A family in which a pericentric inversion of chromosome 22, inv(22)(pllql2), is segregating is described. Special reference is made to a unique recombinant subject with a 'pure' partial monosomy 22 syndrome of maternal origin. An attempt has been made to correlate the phenotypic abnormalities with monosomy for the segment 22ql2--qter.Pericentric inversions are two break events which are much less frequent than translocations (incidence 0-01%).' In addition to the relatively common pericentric inversion of chromosome 9,2 now considered to be a harmless polymorphism, pericentric inversions have been described for most human chromosomes. We are aware of only two other reports of pericentric inversion of chromosome 22. 4 We describe here a family in which a pericentric inversion of chromosome 22 is segregating, including what we believe to be the first case of 'pure'

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